Canonical Allele Identifier: CA404017985
Gene: SLC44A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631097G>T , CM000681.2:g.10631097G>T GRCh38
NC_000019.9:g.10741773G>T , CM000681.1:g.10741773G>T GRCh37
NC_000019.8:g.10602773G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.286G>T MANE Select ENSP00000336888.4:p.Ala96Ser
ENST00000335757.9:c.286G>T ENSP00000336888.4:p.Ala96Ser
ENST00000407327.8:c.280G>T ENSP00000385135.3:p.Ala94Ser
ENST00000586078.5:c.286G>T ENSP00000466664.1:p.Ala96Ser
ENST00000588409.1:c.245+3093G>T ENSP00000468070.1:n.245+3093G>T
ENST00000588465.5:n.195G>T
ENST00000588688.5:c.127G>T ENSP00000467552.1:p.Ala43Ser
ENST00000590382.5:c.121G>T ENSP00000468691.1:p.Ala41Ser
ENST00000590857.5:c.-264G>T ENSP00000465547.1:n.-264G>T
ENST00000592293.5:c.*83G>T ENSP00000466612.1:n.*83G>T
NM_001145056.1:c.280G>T NP_001138528.1:p.Ala94Ser
NM_020428.3:c.286G>T NP_065161.3:p.Ala96Ser
XM_005259997.1:c.286G>T XP_005260054.1:p.Ala96Ser
XM_005259999.1:c.280G>T XP_005260056.1:p.Ala94Ser
NM_001363611.1:c.286G>T NP_001350540.1:p.Ala96Ser
XM_005259999.2:c.280G>T XP_005260056.1:p.Ala94Ser
NM_020428.4:c.286G>T MANE Select NP_065161.3:p.Ala96Ser
NM_001145056.2:c.280G>T NP_001138528.1:p.Ala94Ser
NM_001363611.2:c.286G>T NP_001350540.1:p.Ala96Ser